与核心结合因子(CBF)异常相关的髓系肿瘤包括带有t(8;21)(q22;q22.1) (AML1/ETO融合)和inv(16)(p13.1q22)或t(16;16)(p13.1;q22) (CBFB/MYH11融合)异常的急性髓性白血病(CBF-AML)，这些异常在用胞嘧啶核苷酸为基础的诱导化疗后具有有利的预后。从分子研究中积累的证据将CBF-AML根据相关的合作突变划分为有利和不利的亚群，这些突变对结果有影响。我们描述了一个20多岁的女性患者，患有带有异常嗜酸性粒细胞的急性髓细胞性白血病(M4Eo)，通过次世代测序发现患者具有CBFβ/MYH11融合以及突变的c-KIT (外显子17)和KRAS (外显子2)基因。在胞嘧啶核苷酸为基础的诱导化疗开始后，她的临床进展迅速。潜在的突变谱系可能显著影响CBF-AML的生物学行为，即使其本质上具有有利的风险。© BMJ Publishing Group Limited 2023. 未经商业再利用。请参阅权利和权限。BMJ出版。

Core-binding factor (CBF) abnormality-associated myeloid neoplasms incorporate acute myeloid leukaemia (AML) (CBF-AML) with translocation t(8;21)(q22;q22.1) (AML1/ETO fusion) and inv(16)(p13.1q22) or translocation t(16;16)(p13.1;q22) (CBFB/MYH11 fusion) abnormalities which confer a favourable prognosis following cytarabine-based induction chemotherapy. Accumulating evidence from the molecular studies have stratified CBF-AML into favourable and unfavourable subgroups based on the associated cooperating mutations that impact the outcome. We describe a case of acute myelomonocytic leukaemia with abnormal eosinophils (M4Eo) in a woman in her 20s who was found to have CBFβ/MYH11 fusion along with mutated c-KIT (exon 17) and KRAS (exon 2) genes by next-generation sequencing. She had an aggressive clinical course following initiation of cytarabine-based induction chemotherapy. The underlying mutational landscape may significantly influence the biological behaviour of otherwise favourable risk of CBF-AML cases.© BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ.